IthaID: 252



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 126-131 (-17 bp) >132aa HGVS Name: HBB:c.396delTGCAGGCTGCTATCAG
Hb Name: Hb Westdale Protein Info: β 126 - 131 (-TGCAGGCTGCCTATCAG); modified C-terminal sequence: (126)Glu-Ser-Gly-Gly-Trp-Cys-(132)Gly-COOH

Context nucleotide sequence:
TTTGGCAAAGAATTCACCCCACCAG [-/TGCAGGCTGCCTATCAG] AAAGTGGTGGCTGGTGTGGCTAATG (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71970
Size: 17 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Dominant
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Trinidad, Pakistan
Inheritance: Dominant
DNA Sequence Determined: No
Detection Methods: ARMS, MLPA

Sequence Viewer

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Frequencies

Publications / Origin

  1. Waye JS, Eng B, Francombe WH, Chui DH, Novel seventeen basepair deletion in exon 3 of the beta-globin gene., Human mutation, 6(3), 252-3, 1995 PubMed
  2. Ahmed S, Petrou M, Saleem M, Molecular genetics of beta-thalassaemia in Pakistan: a basis for prenatal diagnosis., British journal of haematology, 94(3), 476-82, 1996 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-08 15:07:23 (Show full history)

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